Annotations: 8BBG

Protein Family Annotation Pfam Database Homepage

Chains	Accession	Name	Description	Comments	Source
A	PF00400	WD domain, G-beta repeat (WD40)	WD domain, G-beta repeat	-	Repeat
A	PF15911	WD domain, G-beta repeat (WD40_3)	WD domain, G-beta repeat	-	Repeat
C	PF00400	WD domain, G-beta repeat (WD40)	WD domain, G-beta repeat	-	Repeat
D	PF14559	Tetratricopeptide repeat (TPR_19)	Tetratricopeptide repeat	-	Repeat
D	PF13181	Tetratricopeptide repeat (TPR_8)	Tetratricopeptide repeat	-	Repeat
D	PF13176	Tetratricopeptide repeat (TPR_7)	Tetratricopeptide repeat	-	Repeat
E	PF12894	Anaphase-promoting complex subunit 4 WD40 domain (ANAPC4_WD40)	Anaphase-promoting complex subunit 4 WD40 domain	-	Repeat
E	PF00400	WD domain, G-beta repeat (WD40)	WD domain, G-beta repeat	-	Repeat
F	PF15305	Intraflagellar transport protein 43 (IFT43)	Intraflagellar transport protein 43	-	Family

Gene Ontology: Gene Product Annotation Gene Ontology Database Homepage

Chains	Polymer	Molecular Function	Biological Process	Cellular Component
A	WD repeat-containing protein 19	-	cellular component organization cellular component biogenesis cellular component assembly protein-containing complex organization protein-containing complex assembly cellular process cellular component organization or biogenesis developmental process multicellular organism development multicellular organismal process epithelium development myotome development somite development anatomical structure development cellular component organization cellular component biogenesis cellular component assembly protein-containing complex organization protein-containing complex assembly cellular process cellular component organization or biogenesis developmental process multicellular organism development multicellular organismal process epithelium development myotome development somite development anatomical structure development embryo development tissue development cellular response to stimulus regulation of cellular process response to stimulus signaling chordate embryonic development pattern specification process cell communication embryo development ending in birth or egg hatching dorsal/ventral neural tube patterning smoothened signaling pathway involved in dorsal/ventral neural tube patterning signal transduction system development regulation of biological process neural tube development cell surface receptor signaling pathway tube development biological regulation nervous system development regionalization smoothened signaling pathway dorsal/ventral pattern formation neural tube patterning embryonic organ morphogenesis embryonic cranial skeleton morphogenesis embryonic morphogenesis animal organ development anatomical structure morphogenesis skeletal system development cranial skeletal system development animal organ morphogenesis embryonic skeletal system development skeletal system morphogenesis embryonic organ development embryonic skeletal system morphogenesis digestive system development ear morphogenesis ear development sensory organ development sensory organ morphogenesis gonad development reproductive system development reproductive process sex differentiation developmental process involved in reproduction development of primary sexual characteristics reproductive structure development system process nervous system process limb development appendage development embryonic limb morphogenesis embryonic appendage morphogenesis appendage morphogenesis limb morphogenesis cellular localization plasma membrane bounded cell projection organization cell projection organization transport intracellular transport intraciliary retrograde transport establishment of localization protein-containing complex localization localization organelle organization establishment of localization in cell microtubule-based transport transport along microtubule cytoskeleton-dependent intracellular transport microtubule-based movement microtubule-based process cilium organization intraciliary transport organelle assembly plasma membrane bounded cell projection assembly cilium assembly cell projection assembly in utero embryonic development cell morphogenesis eye development visual system development embryonic camera-type eye development camera-type eye development sensory system development protein localization protein localization to cell periphery protein localization to cilium localization within membrane protein localization to membrane protein localization to ciliary membrane cellular macromolecule localization macromolecule localization protein localization to organelle receptor clustering	membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A ciliary transition zone non-motile cilium 9+0 non-motile cilium neuron projection photoreceptor cell cilium membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A ciliary transition zone non-motile cilium 9+0 non-motile cilium neuron projection photoreceptor cell cilium photoreceptor connecting cilium ciliary tip cell periphery plasma membrane membrane intracellular anatomical structure cytoplasm motile cilium photoreceptor outer segment intracellular organelle cytoskeleton intracellular non-membrane-bounded organelle non-membrane-bounded organelle
B	Intraflagellar transport protein 140 homolog	-	developmental process heart development multicellular organism development multicellular organismal process anatomical structure development animal organ development circulatory system development system development protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization developmental process heart development multicellular organism development multicellular organismal process anatomical structure development animal organ development circulatory system development system development protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process cellular developmental process photoreceptor cell differentiation cell development nervous system development generation of neurons cellular component organization neurogenesis neuron differentiation photoreceptor cell outer segment organization cell differentiation neuron development cellular component organization or biogenesis photoreceptor cell development epithelium development neural tube development tube development chordate embryonic development pattern specification process embryo development tissue development regionalization embryo development ending in birth or egg hatching neural tube patterning embryonic organ morphogenesis embryonic cranial skeleton morphogenesis embryonic morphogenesis anatomical structure morphogenesis skeletal system development cranial skeletal system development animal organ morphogenesis embryonic skeletal system development skeletal system morphogenesis embryonic organ development embryonic skeletal system morphogenesis cellular response to stimulus regulation of biological process regulation of signaling regulation of cellular process cell surface receptor signaling pathway response to stimulus signaling biological regulation regulation of signal transduction smoothened signaling pathway cell communication regulation of response to stimulus regulation of cell communication signal transduction regulation of smoothened signaling pathway plasma membrane bounded cell projection organization cell projection organization transport intracellular transport intraciliary retrograde transport establishment of localization protein-containing complex localization organelle organization establishment of localization in cell microtubule-based transport transport along microtubule cytoskeleton-dependent intracellular transport microtubule-based movement microtubule-based process cilium organization intraciliary transport organelle assembly plasma membrane bounded cell projection assembly cellular component biogenesis cellular component assembly cilium assembly cell projection assembly embryonic brain development non-motile cilium assembly determination of bilateral symmetry determination of left/right symmetry left/right pattern formation specification of symmetry regulation of cellular component organization regulation of cell projection organization regulation of cell projection assembly regulation of cellular component biogenesis regulation of organelle organization regulation of plasma membrane bounded cell projection assembly regulation of cilium assembly regulation of organelle assembly regulation of plasma membrane bounded cell projection organization sensory organ development eye development visual system development embryonic camera-type eye development camera-type eye development sensory system development limb development appendage development embryonic limb morphogenesis embryonic appendage morphogenesis appendage morphogenesis embryonic digit morphogenesis limb morphogenesis	membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular anatomical structure axoneme ciliary plasm cytoplasmic region plasma membrane bounded cell projection cytoplasm membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular anatomical structure axoneme ciliary plasm cytoplasmic region plasma membrane bounded cell projection cytoplasm intracellular organelle cytoskeleton intracellular non-membrane-bounded organelle cytoplasm non-membrane-bounded organelle ciliary transition zone non-motile cilium 9+0 non-motile cilium neuron projection photoreceptor cell cilium photoreceptor connecting cilium centrosome microtubule organizing center microtubule cytoskeleton centriole ciliary tip photoreceptor outer segment cone photoreceptor outer segment ciliary basal body
C	Intraflagellar transport protein 122 homolog	-	protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process developmental process multicellular organismal process limb development appendage development embryonic forelimb morphogenesis embryonic limb morphogenesis protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process developmental process multicellular organismal process limb development appendage development embryonic forelimb morphogenesis embryonic limb morphogenesis embryonic morphogenesis embryonic appendage morphogenesis embryo development multicellular organism development anatomical structure morphogenesis forelimb morphogenesis appendage morphogenesis anatomical structure development limb morphogenesis heart development epithelium development embryonic heart tube left/right pattern formation tube development animal organ development pattern specification process tissue development embryonic heart tube development regionalization circulatory system development embryonic organ development left/right pattern formation system development spinal cord dorsal/ventral patterning nervous system development dorsal/ventral pattern formation spinal cord development central nervous system development spinal cord patterning cellular response to stimulus regulation of cellular process response to stimulus negative regulation of signaling signaling negative regulation of biological process regulation of signal transduction negative regulation of cell communication cell communication negative regulation of smoothened signaling pathway negative regulation of cellular process signal transduction regulation of smoothened signaling pathway regulation of signaling regulation of biological process cell surface receptor signaling pathway negative regulation of response to stimulus biological regulation negative regulation of signal transduction smoothened signaling pathway regulation of response to stimulus regulation of cell communication plasma membrane bounded cell projection organization cell projection organization transport intracellular transport intraciliary retrograde transport establishment of localization protein-containing complex localization cellular component organization organelle organization establishment of localization in cell microtubule-based transport transport along microtubule cytoskeleton-dependent intracellular transport microtubule-based movement microtubule-based process cellular component organization or biogenesis cilium organization intraciliary transport organelle assembly plasma membrane bounded cell projection assembly cellular component biogenesis cellular component assembly cilium assembly cell projection assembly non-motile cilium assembly embryonic epithelial tube formation chordate embryonic development tube formation epithelial tube formation tube morphogenesis primary neural tube formation embryo development ending in birth or egg hatching epithelial tube morphogenesis morphogenesis of embryonic epithelium neural tube development morphogenesis of an epithelium tissue morphogenesis neural tube closure neural tube formation anatomical structure formation involved in morphogenesis tube closure embryonic body morphogenesis body morphogenesis camera-type eye morphogenesis sensory organ development eye development visual system development eye morphogenesis sensory organ morphogenesis camera-type eye development animal organ morphogenesis sensory system development intraciliary anterograde transport establishment of protein localization establishment of protein localization to organelle	membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A membrane ciliary transition zone non-motile cilium 9+0 non-motile cilium neuron projection membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A membrane ciliary transition zone non-motile cilium 9+0 non-motile cilium neuron projection photoreceptor cell cilium photoreceptor connecting cilium ciliary tip intracellular anatomical structure cytoplasm intracellular organelle ciliary basal body microtubule organizing center cytoskeleton intracellular non-membrane-bounded organelle microtubule cytoskeleton non-membrane-bounded organelle
D	SNAP-tag,Tetratricopeptide repeat protein 21B	protein-containing complex binding chromatin binding binding	protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process cellular response to stimulus regulation of biological process regulation of cellular process cell surface receptor signaling pathway response to stimulus signaling protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process cellular response to stimulus regulation of biological process regulation of cellular process cell surface receptor signaling pathway response to stimulus signaling biological regulation smoothened signaling pathway cell communication signal transduction developmental process multicellular organismal process head development forebrain dorsal/ventral pattern formation forebrain development animal organ development brain development pattern specification process nervous system development regionalization multicellular organism development dorsal/ventral pattern formation central nervous system development forebrain regionalization anatomical structure development system development cellular biosynthetic process positive regulation of biological process positive regulation of cellular metabolic process positive regulation of macromolecule biosynthetic process positive regulation of metabolic process organic substance metabolic process positive regulation of biosynthetic process organic substance biosynthetic process positive regulation of macromolecule metabolic process positive regulation of cellular process regulation of biosynthetic process cellular metabolic process regulation of cellular metabolic process regulation of macromolecule metabolic process gene expression macromolecule biosynthetic process regulation of cellular biosynthetic process regulation of gene expression biosynthetic process positive regulation of gene expression regulation of macromolecule biosynthetic process metabolic process macromolecule metabolic process regulation of metabolic process positive regulation of cellular biosynthetic process regulation of signaling regulation of signal transduction regulation of response to stimulus regulation of cell communication regulation of smoothened signaling pathway protein localization to non-motile cilium RNA metabolic process regulation of primary metabolic process RNA biosynthetic process nucleobase-containing compound metabolic process DNA-templated transcription nucleic acid biosynthetic process regulation of RNA metabolic process transcription by RNA polymerase II regulation of nucleobase-containing compound metabolic process regulation of RNA biosynthetic process regulation of transcription by RNA polymerase II primary metabolic process nucleobase-containing compound biosynthetic process nucleic acid metabolic process organic cyclic compound metabolic process organic cyclic compound biosynthetic process regulation of DNA-templated transcription positive regulation of cell communication positive regulation of signal transduction regulation of canonical Wnt signaling pathway canonical Wnt signaling pathway positive regulation of response to stimulus positive regulation of Wnt signaling pathway Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of Wnt signaling pathway positive regulation of signaling regulation of localization transport cell projection organization intraciliary retrograde transport cellular component organization establishment of localization in cell regulation of intraciliary retrograde transport transport along microtubule cellular component organization or biogenesis cilium organization regulation of intracellular transport intraciliary transport plasma membrane bounded cell projection organization regulation of transport regulation of microtubule-based process intracellular transport regulation of microtubule-based movement establishment of localization protein-containing complex localization organelle organization regulation of cellular localization microtubule-based transport microtubule-based movement microtubule-based process cytoskeleton-dependent intracellular transport negative regulation of feeding behavior negative regulation of behavior regulation of eating behavior eating behavior negative regulation of eating behavior negative regulation of biological process feeding behavior regulation of behavior behavior regulation of multicellular organismal process regulation of feeding behavior negative regulation of multicellular organismal process ventricular system development cerebellar cortex morphogenesis cellular developmental process hindbrain morphogenesis cerebellar Purkinje cell layer formation central nervous system neuron differentiation neurogenesis cerebellar Purkinje cell layer development cerebellar Purkinje cell differentiation neuron differentiation cell differentiation metencephalon development cerebellar Purkinje cell layer morphogenesis cerebellar cortex formation cerebellum morphogenesis generation of neurons cerebellar cortex development anatomical structure morphogenesis cerebellum development anatomical structure formation involved in morphogenesis hindbrain development cell differentiation in hindbrain organelle assembly plasma membrane bounded cell projection assembly cellular component biogenesis cellular component assembly cilium assembly cell projection assembly astrocyte differentiation gliogenesis glial cell differentiation Bergmann glial cell differentiation	membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular organelle intracellular anatomical structure cytoskeleton intracellular non-membrane-bounded organelle non-membrane-bounded organelle membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular organelle intracellular anatomical structure cytoskeleton intracellular non-membrane-bounded organelle non-membrane-bounded organelle ciliary tip cytoplasm
E	WD repeat-containing protein 35	-	protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process plasma membrane bounded cell projection organization cell projection organization transport intracellular transport establishment of localization protein-containing complex localization protein localization localization cellular localization protein localization to cilium protein localization to organelle cellular macromolecule localization macromolecule localization cellular process plasma membrane bounded cell projection organization cell projection organization transport intracellular transport establishment of localization protein-containing complex localization cellular component organization organelle organization establishment of localization in cell microtubule-based transport transport along microtubule cytoskeleton-dependent intracellular transport microtubule-based movement microtubule-based process cellular component organization or biogenesis cilium organization intraciliary transport intraciliary retrograde transport cellular response to stimulus response to organic substance response to stimulus response to cytokine response to leukemia inhibitory factor cellular response to leukemia inhibitory factor cellular response to chemical stimulus response to chemical cellular response to cytokine stimulus cellular response to organic substance organelle assembly plasma membrane bounded cell projection assembly cellular component biogenesis cellular component assembly cilium assembly cell projection assembly	membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular anatomical structure axoneme ciliary plasm cytoplasmic region plasma membrane bounded cell projection cytoplasm membrane-bounded organelle cell projection organelle cilium cellular anatomical entity plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A intracellular anatomical structure axoneme ciliary plasm cytoplasmic region plasma membrane bounded cell projection cytoplasm intracellular organelle cytoskeleton intracellular non-membrane-bounded organelle cytoplasm non-membrane-bounded organelle centrosome microtubule organizing center microtubule cytoskeleton ciliary tip ciliary basal body
F	Intraflagellar transport protein 43 homolog	-	cellular localization plasma membrane bounded cell projection organization cell projection organization transport intracellular transport intraciliary retrograde transport establishment of localization protein-containing complex localization cellular component organization localization organelle organization establishment of localization in cell microtubule-based transport cellular process cellular localization plasma membrane bounded cell projection organization cell projection organization transport intracellular transport intraciliary retrograde transport establishment of localization protein-containing complex localization cellular component organization localization organelle organization establishment of localization in cell microtubule-based transport cellular process transport along microtubule cytoskeleton-dependent intracellular transport microtubule-based movement microtubule-based process cellular component organization or biogenesis cilium organization intraciliary transport organelle assembly plasma membrane bounded cell projection assembly cellular component biogenesis cellular component assembly cilium assembly cell projection assembly	intracellular organelle microtubule organizing center intracellular anatomical structure cytoskeleton organelle intracellular non-membrane-bounded organelle centriole cellular anatomical entity microtubule cytoskeleton non-membrane-bounded organelle membrane-bounded organelle cell projection ciliary tip cilium intracellular organelle microtubule organizing center intracellular anatomical structure cytoskeleton organelle intracellular non-membrane-bounded organelle centriole cellular anatomical entity microtubule cytoskeleton non-membrane-bounded organelle membrane-bounded organelle cell projection ciliary tip cilium plasma membrane bounded cell projection protein-containing complex intraciliary transport particle intraciliary transport particle A cytoplasm centrosome centriolar satellite

InterPro: Protein Family Classification InterPro Database Homepage

Chains	Accession	Name	Type
A	IPR011990	Tetratricopeptide-like helical domain superfamily	Homologous Superfamily
A	IPR015943	WD40/YVTN repeat-like-containing domain superfamily	Homologous Superfamily
A	IPR039468	WDR19, WD40 repeat	Repeat
A	IPR001680	WD40 repeat	Repeat
A	IPR040379	WD repeat-containing protein 19/dyf-2	Family
B	IPR015943	WD40/YVTN repeat-like-containing domain superfamily	Homologous Superfamily
B	IPR036322	WD40-repeat-containing domain superfamily	Homologous Superfamily
B	IPR001680	WD40 repeat	Repeat
C	IPR015943	WD40/YVTN repeat-like-containing domain superfamily	Homologous Superfamily
C	IPR039857	Intraflagellar transport protein 122/121 homolog	Family
C	IPR036322	WD40-repeat-containing domain superfamily	Homologous Superfamily
C	IPR001680	WD40 repeat	Repeat
D	IPR011990	Tetratricopeptide-like helical domain superfamily	Homologous Superfamily
D	IPR040364	Tetratricopeptide repeat protein 21A/21B	Family
D	IPR019734	Tetratricopeptide repeat	Repeat
E	IPR017233	WD repeat protein 35	Family
E	IPR039857	Intraflagellar transport protein 122/121 homolog	Family
E	IPR024977	Anaphase-promoting complex subunit 4-like, WD40 domain	Domain
E	IPR036322	WD40-repeat-containing domain superfamily	Homologous Superfamily
E	IPR001680	WD40 repeat	Repeat
E	IPR015943	WD40/YVTN repeat-like-containing domain superfamily	Homologous Superfamily
F	IPR029302	Intraflagellar transport protein 43	Family

Pharos: Disease Associations Pharos Homepage Annotation

Chains	Drug Target	Associated Disease
A	Pharos: Q8NEZ3	cranioectodermal dysplasia Jeune syndrome Senior-Loken syndrome asphyxiating thoracic dystrophy 5 cranioectodermal dysplasia 4 nephronophthisis Senior-Loken syndrome 8 nephronophthisis 13 retinitis pigmentosa Leber congenital amaurosis psoriasis sinusitis ciliopathy ovarian cancer polydactyly cranioectodermal dysplasia Jeune syndrome Senior-Loken syndrome asphyxiating thoracic dystrophy 5 cranioectodermal dysplasia 4 nephronophthisis Senior-Loken syndrome 8 nephronophthisis 13 retinitis pigmentosa Leber congenital amaurosis psoriasis sinusitis ciliopathy ovarian cancer polydactyly Renal dysplasia and retinal aplasia (disorder) astrocytic tumor cone-rod dystrophy nephronophthisis 1 Pick disease progressive supranuclear palsy retinal degeneration intellectual disability malignant ependymoma pituitary cancer
B	Pharos: Q96RY7	Jeune syndrome retinitis pigmentosa short-rib thoracic dysplasia 9 with or without polydactyly Leber congenital amaurosis short rib-polydactyly syndrome retinitis pigmentosa 80 atrial fibrillation cone-rod dystrophy intellectual disability large cell medulloblastoma Majewski Syndrome osteogenesis imperfecta polydactyly skin disease cranioectodermal dysplasia Jeune syndrome retinitis pigmentosa short-rib thoracic dysplasia 9 with or without polydactyly Leber congenital amaurosis short rib-polydactyly syndrome retinitis pigmentosa 80 atrial fibrillation cone-rod dystrophy intellectual disability large cell medulloblastoma Majewski Syndrome osteogenesis imperfecta polydactyly skin disease cranioectodermal dysplasia interstitial cystitis malignant ependymoma osteosarcoma ciliopathy epilepsy orofaciodigital syndrome III ovarian cancer
C	Pharos: Q9HBG6	cranioectodermal dysplasia craniosynostosis primary ciliary dyskinesia hydrocephalus kidney disease obstructive hydrocephalus Eye Abnormalities communicating hydrocephalus cranioectodermal dysplasia 1 ovarian cancer congenital hydrocephalus malignant ependymoma osteogenesis imperfecta acromesomelic dysplasia trigonocephaly cranioectodermal dysplasia craniosynostosis primary ciliary dyskinesia hydrocephalus kidney disease obstructive hydrocephalus Eye Abnormalities communicating hydrocephalus cranioectodermal dysplasia 1 ovarian cancer congenital hydrocephalus malignant ependymoma osteogenesis imperfecta acromesomelic dysplasia trigonocephaly Beemer-Langer syndrome intellectual disability osteosarcoma acromesomelic dysplasia, Hunter-Thompson type
D	Pharos: Q7Z4L5	Jeune syndrome nephronophthisis 12 nephronophthisis asphyxiating thoracic dystrophy 4 short rib-polydactyly syndrome kidney disease obesity disorder Prescription Drug Abuse substance dependence acquired metabolic disease Bardet-Biedl syndrome cutaneous lupus erythematosus drug dependence epilepsy Joubert syndrome Jeune syndrome nephronophthisis 12 nephronophthisis asphyxiating thoracic dystrophy 4 short rib-polydactyly syndrome kidney disease obesity disorder Prescription Drug Abuse substance dependence acquired metabolic disease Bardet-Biedl syndrome cutaneous lupus erythematosus drug dependence epilepsy Joubert syndrome psoriasis substance abuse asphyxiating thoracic dystrophy 1 intellectual disability malignant mesothelioma nephronophthisis 2 polydactyly substance-related disorder ciliopathy
E	Pharos: Q9P2L0	cranioectodermal dysplasia craniosynostosis short-rib thoracic dysplasia 7 with or without polydactyly cranioectodermal dysplasia 2 short rib-polydactyly syndrome Jeune syndrome short rib-polydactyly syndrome, Verma-Naumoff type polydactyly Scaphycephaly trigonocephaly intellectual disability lung carcinoma malignant glioma osteogenesis imperfecta primitive neuroectodermal tumor cranioectodermal dysplasia craniosynostosis short-rib thoracic dysplasia 7 with or without polydactyly cranioectodermal dysplasia 2 short rib-polydactyly syndrome Jeune syndrome short rib-polydactyly syndrome, Verma-Naumoff type polydactyly Scaphycephaly trigonocephaly intellectual disability lung carcinoma malignant glioma osteogenesis imperfecta primitive neuroectodermal tumor asphyxiating thoracic dystrophy 3 medulloblastoma ovarian cancer atypical teratoid rhabdoid tumor glioblastoma large cell medulloblastoma malignant ependymoma
F	Pharos: Q96FT9	cranioectodermal dysplasia cranioectodermal dysplasia 3 angioedema Ciliopathies intellectual disability ovarian cancer retinitis pigmentosa 81 C1 inhibitor deficiency malignant ependymoma pancreatic ductal adenocarcinoma short-rib thoracic dysplasia 18 with polydactyly carpal tunnel syndrome medulloblastoma polydactyly subependymal giant cell astrocytoma