hu.MAP 3.0: Complex View

Human Protein Complex Map

Complex: huMAP3_11588.1

Confidence: Medium

Genename	Protein Name	Uniprot Annotation Score	Links
B9D2	B9 domain-containing protein 2 (MKS1-related protein 2)	5	UniProt NCBI
TMEM231	Transmembrane protein 231	5	UniProt NCBI
CC2D2A	Coiled-coil and C2 domain-containing protein 2A	5	UniProt NCBI
B9D1	B9 domain-containing protein 1 (MKS1-related protein 1)	5	UniProt NCBI
ASIC2	Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive brain sodium channel) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)	5	UniProt NCBI
MKS1	Tectonic-like complex member MKS1 (Meckel syndrome type 1 protein)	5	UniProt NCBI
TMEM17	Transmembrane protein 17	4	UniProt NCBI
CRYGN	Gamma-crystallin N (Gamma-N-crystallin)	3	UniProt NCBI

Enrichments

Term ID	Corrected Pval	Fraction Complex Coverage	Proteins	Term Name
GO:0036038	4.78079945042e-14	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	MKS complex
HP:0010459	1.73783849536e-11	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	True hermaphroditism
WP:WP4656	2.68543501028e-11	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	Joubert syndrome
HP:0100732	1.00850612089e-10	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Pancreatic fibrosis
HP:0006870	1.34444455956e-10	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Lobar holoprosencephaly
HP:0000068	1.76428129278e-10	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Urethral atresia
HP:0001737	1.23363959096e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Pancreatic cysts
HP:0010295	1.23363959096e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the tongue
GO:0035869	1.26435323449e-09	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	ciliary transition zone
HP:0001747	1.47062594476e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Accessory spleen
HP:0000037	1.47062594476e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Male pseudohermaphroditism
HP:0002323	1.47062594476e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Anencephaly
HP:0002419	2.40714348404e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Molar tooth sign on MRI
HP:0002085	2.80785276421e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Occipital encephalocele
WP:WP4803	3.3714107656e-09	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	Ciliopathies
HP:0006706	3.76892935831e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cystic liver disease
HP:0000221	4.33923534257e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Furrowed tongue
HP:0002612	4.97650496909e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Congenital hepatic fibrosis
HP:0000073	5.68645925877e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ureteral duplication
HP:0000647	9.37877061793e-09	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Sclerocornea
HP:0001177	2.47443858156e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Preaxial hand polydactyly
HP:0004422	3.60793188074e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Biparietal narrowing
HP:0001830	6.05036015518e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Postaxial foot polydactyly
HP:0000528	6.05036015518e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Anophthalmia
WP:WP4536	6.14995676232e-08	0.625	CC2D2A MKS1 TMEM231 TMEM17 B9D1	Genes related to primary cilium development based on CRISPR
HP:0001746	8.30749850349e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Asplenia
HP:0001360	8.96528428571e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Holoprosencephaly
HP:0002418	9.66403754705e-08	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal midbrain morphology
HP:0010451	1.20251818882e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the spleen
HP:0009799	1.38400942338e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Supernumerary spleens
HP:0100258	1.38400942338e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Preaxial polydactyly
HP:0010322	2.19867348304e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal fifth toe morphology
HP:0001162	2.19867348304e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Postaxial hand polydactyly
HP:0000003	2.49068095398e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Multicystic kidney dysplasia
HP:0002789	2.49068095398e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Tachypnea
HP:0012090	2.64786391186e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal pancreas morphology
HP:0001696	4.45063748454e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Situs inversus totalis
HP:0011534	4.96011575304e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal spatial orientation of the cardiac segments
HP:0000657	5.81064880302e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Oculomotor apraxia
HP:0000457	6.77383179894e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Depressed nasal ridge
HP:0000062	7.1217732071e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ambiguous genitalia
HP:0011815	7.86046083245e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cephalocele
HP:0002084	7.86046083245e-07	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Encephalocele
HP:0001651	1.09416414295e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Dextrocardia
HP:0004307	1.14509620779e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal anatomic location of the heart
HP:0008053	1.19790371971e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the iris
HP:0008055	1.19790371971e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia affecting the uvea
HP:0000482	1.3680946843e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Microcornea
HP:0001829	1.42892431848e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Foot polydactyly
HP:0009136	1.69420741929e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Duplication involving bones of the feet
HP:0008062	1.76630525447e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia affecting the anterior segment of the eye
HP:0000293	1.99741344811e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Full cheeks
HP:0001305	1.99741344811e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Dandy-Walker malformation
HP:0001395	2.07959297104e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Hepatic fibrosis
HP:0100259	2.07959297104e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Postaxial polydactyly
HP:0034237	2.1644493311e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Open neural tube defect
HP:0002251	2.73348911079e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aganglionic megacolon
HP:0004362	2.73348911079e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal enteric ganglion morphology
HP:0025633	2.83894906278e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal ureter morphology
HP:0025028	2.83894906278e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal enteric nervous system morphology
HP:0012331	2.83894906278e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal autonomic nervous system morphology
HP:0000532	3.54197000843e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal chorioretinal morphology
HP:0002198	4.08317527328e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Dilated fourth ventricle
HP:0010950	4.08317527328e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal fourth ventricle morphology
HP:0002350	4.85037966389e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cerebellar cyst
HP:0001120	6.1133210484e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of corneal size
HP:0001161	6.31332779929e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Hand polydactyly
HP:0002876	6.66240261291e-06	0.5	CC2D2A MKS1 B9D2 B9D1	Episodic tachypnea
HP:0000612	7.16622111225e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Iris coloboma
HP:0001562	7.16622111225e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Oligohydramnios
HP:0000340	8.61550384069e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Sloping forehead
HP:0000610	8.61550384069e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal choroid morphology
HP:0005445	9.42291466218e-06	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Enlarged posterior fossa
HP:0002553	1.18743275108e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Highly arched eyebrow
HP:0010576	1.52137287584e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Intracranial cystic lesion
HP:0002186	1.56267035563e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Apraxia
HP:0030724	1.60485683249e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Central nervous system cyst
HP:0000932	1.78277853197e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal posterior cranial fossa morphology
REAC:R-HSA-5620912	2.24415957957e-05	0.5	CC2D2A MKS1 B9D2 B9D1	Anchoring of the basal body to the plasma membrane
HP:0009997	2.35433150802e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Duplication of phalanx of hand
HP:0009142	2.41277239783e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Duplication of bones involving the upper extremities
HP:0004275	2.41277239783e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Duplication of hand bones
HP:0002104	2.47236388156e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Apnea
HP:0002693	2.47236388156e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal skull base morphology
HP:0000426	2.65821052024e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Prominent nasal bridge
HP:0011119	2.99256469362e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal nasal dorsum morphology
HP:0000368	3.06328601257e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Low-set, posteriorly rotated ears
HP:0000589	3.59649666665e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Coloboma
HP:0004426	3.76167729171e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cheek morphology
HPA:0060873	3.96853393723e-05	0.5	CC2D2A B9D1 B9D2 TMEM231	bronchus; ciliated cells (ciliary rootlets)[High]
HP:0010442	4.20118492209e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Polydactyly
HP:0000276	4.29380077113e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Long face
HP:0002438	4.58144975927e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cerebellar malformation
HP:0007957	5.09481589768e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Corneal opacity
GO:0060271	5.57935377775e-05	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	cilium assembly
HP:0000107	5.88945535653e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Renal cyst
HP:0000568	6.01060110342e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Microphthalmia
HP:0006487	6.25884656893e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Bowing of the long bones
HP:0100729	6.91531919517e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Large face
HP:0002270	7.05295764584e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the autonomic nervous system
HP:0001320	7.05295764584e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cerebellar vermis hypoplasia
HP:0045005	8.0787064672e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Neural tube defect
HP:0410043	8.0787064672e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal neural tube morphology
GO:0044782	8.52643084079e-05	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	cilium organization
HP:0001732	9.04943825824e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the pancreas
HP:0000940	9.92739394031e-05	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal diaphysis morphology
HP:0100887	0.000102969969142	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of globe size
HP:0006817	0.00010871861819	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the cerebellar vermis
HP:0007700	0.000125305672954	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ocular anterior segment dysgenesis
HP:0030809	0.000196703817017	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal tongue morphology
HP:0002334	0.000226609826556	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cerebellar vermis morphology
HP:0000864	0.000263967137352	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the hypothalamus-pituitary axis
HP:0000069	0.000271993977762	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the ureter
HPA:0210873	0.000298809184348	0.5	CC2D2A B9D1 B9D2 TMEM231	fallopian tube; ciliated cells (ciliary rootlets)[High]
HP:0000238	0.000348361981987	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Hydrocephalus
HP:0001172	0.000373791914469	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal thumb morphology
REAC:R-HSA-5617833	0.000387508352921	0.5	CC2D2A MKS1 B9D2 B9D1	Cilium Assembly
HP:0000157	0.000544830364116	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the tongue
HP:0410008	0.000544830364116	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the peripheral nervous system
GO:0120031	0.000557754630319	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	plasma membrane bounded cell projection assembly
HP:0000525	0.000603640038351	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality iris morphology
HP:0011461	0.000639891844547	0.5	CC2D2A MKS1 B9D2 B9D1	Fetal onset
HP:0001560	0.000642883072708	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the amniotic fluid
GO:0030031	0.000646167960847	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	cell projection assembly
HP:0000358	0.000659136131108	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Posteriorly rotated ears
HP:0000795	0.000667384120922	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the urethra
HP:0001883	0.000727443145719	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Talipes
HP:0008056	0.000736362147957	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia affecting the eye
HP:0001321	0.000745367774344	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cerebellar hypoplasia
HP:0005656	0.000763641382324	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Positional foot deformity
HP:0000463	0.00077291061239	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Anteverted nares
HP:0002269	0.000860420496842	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of neuronal migration
GO:0005929	0.000906788136077	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	cilium
HP:0005288	0.000923002378802	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal nostril morphology
HP:0004207	0.00101200877999	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal 5th finger morphology
HPA:0320872	0.00102017043522	0.5	CC2D2A B9D1 B9D2 TMEM231	nasopharynx; ciliated cells (ciliary rootlets)[>=Medium]
GO:0007224	0.00123045452734	0.5	CC2D2A TMEM17 TMEM231 B9D1	smoothened signaling pathway
HP:0030674	0.00150481382461	0.5	CC2D2A MKS1 B9D2 B9D1	Antenatal onset
HP:0007360	0.00151640091473	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the cerebellum
HP:0025408	0.00154846710491	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal spleen morphology
REAC:R-HSA-1852241	0.0017212773113	0.5	CC2D2A MKS1 B9D2 B9D1	Organelle biogenesis and maintenance
HP:0000553	0.00193800429688	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal uvea morphology
HPA:0320871	0.00194448651862	0.5	CC2D2A B9D1 B9D2 TMEM231	nasopharynx; ciliated cells (ciliary rootlets)[>=Low]
HPA:0060872	0.00196768978976	0.5	CC2D2A B9D1 B9D2 TMEM231	bronchus; ciliated cells (ciliary rootlets)[>=Medium]
HP:0001743	0.00197694025617	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the spleen
HP:0000429	0.00201649378305	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal morphology of the nasal alae
HP:0000175	0.00233356357481	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cleft palate
HP:0000648	0.0025181141859	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Optic atrophy
HP:0002921	0.00261462533856	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cerebrospinal fluid morphology
HP:0000309	0.00314208640971	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal midface morphology
HP:0000202	0.00331572047218	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Orofacial cleft
HP:5201015	0.00340533999877	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Craniofacial cleft
HP:0000534	0.00401846016737	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal eyebrow morphology
HP:0005918	0.00422920581853	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal finger phalanx morphology
HPA:0320873	0.00435390118175	0.375	CC2D2A B9D2 B9D1	nasopharynx; ciliated cells (ciliary rootlets)[High]
HPA:0060871	0.00532686494444	0.5	CC2D2A B9D1 B9D2 TMEM231	bronchus; ciliated cells (ciliary rootlets)[>=Low]
HP:0001780	0.00546169538428	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal toe morphology
HP:0000481	0.00577573005613	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cornea morphology
HP:0100763	0.00600865316607	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the lymphatic system
HP:0006563	0.0063183945919	0.25	MKS1 B9D2	Malformation of the hepatic ductal plate
HP:0002793	0.00680434235442	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal pattern of respiration
HP:0011314	0.00706935007653	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal long bone morphology
HP:0012795	0.00739805674906	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal optic disc morphology
HP:0040069	0.00745399581592	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal lower limb bone morphology
HP:0000508	0.00773872644676	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ptosis
HP:0002242	0.00779668986219	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal intestine morphology
HP:0000028	0.00779668986219	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cryptorchidism
HP:0002119	0.00870807850572	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ventriculomegaly
HP:0007370	0.00916119500335	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the corpus callosum
HP:0000518	0.0105591744633	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Cataract
HP:0000316	0.0113968054149	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Hypertelorism
HP:0000517	0.0119565631265	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal lens morphology
HP:0000347	0.0127078913747	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Micrognathia
HP:0009118	0.0128798013694	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia of the mandible
HP:0009116	0.0136762439186	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/Hypoplasia involving bones of the skull
HP:0000587	0.0141352003047	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal optic nerve morphology
HP:0410042	0.0143221479179	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal liver morphology
HP:0010936	0.0144163501017	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the lower urinary tract
HP:0033725	0.0152863524979	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Thin corpus callosum
HP:0000369	0.0169348566211	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Low-set ears
HP:0010938	0.0184894476316	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal external nose morphology
GO:0070925	0.0200285319272	0.75	TMEM231 B9D1 B9D2 CC2D2A MKS1 TMEM17	organelle assembly
HP:0000479	0.0220670206652	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal retinal morphology
HP:0000357	0.0221994338924	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal location of ears
HP:0001273	0.0221994338924	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal corpus callosum morphology
HP:0009122	0.0227353578701	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Aplasia/hypoplasia affecting bones of the axial skeleton
HPA:0210872	0.0230650990944	0.5	CC2D2A B9D1 B9D2 TMEM231	fallopian tube; ciliated cells (ciliary rootlets)[>=Medium]
HP:0000180	0.0236486099347	0.25	MKS1 TMEM231	Lobulated tongue
HP:0000035	0.0236976997071	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal testis morphology
HP:0012718	0.02440450526	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal gastrointestinal tract morphology
HP:0001197	0.0254218030086	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of prenatal development or birth
HP:0002683	0.0261686577781	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal calvaria morphology
HP:0002118	0.0263200792391	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cerebral ventricle morphology
HP:0010476	0.0270195830756	0.25	CC2D2A MKS1	Aplasia/Hypoplasia of the bladder
HP:0001408	0.0270195830756	0.25	CC2D2A MKS1	Bile duct proliferation
HP:0000422	0.0324263426009	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal nasal bridge morphology
HP:0001317	0.0333302835979	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal cerebellum morphology
HP:0011283	0.0340676042959	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal metencephalon morphology
HP:0011282	0.0340676042959	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal hindbrain morphology
HP:0025033	0.0340676042959	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal digestive system morphology
HP:0004305	0.0348176895696	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Involuntary movements
HP:0001251	0.0353887258794	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Ataxia
HP:0005922	0.0361615324575	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal hand morphology
HP:0000639	0.0371461287279	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Nystagmus
HP:0012547	0.0400154736285	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal involuntary eye movements
HP:0001392	0.0415139495868	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of the liver
HP:0002650	0.0451047388874	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Scoliosis
HP:0001999	0.0458043395768	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal facial shape
HP:0100886	0.0465124334164	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormality of globe location
HP:0012210	0.0484427703238	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal renal morphology
HP:0000277	0.0496807981441	0.625	CC2D2A B9D1 B9D2 MKS1 TMEM231	Abnormal mandible morphology

Edges

Protein 1	Protein 2	Score	ProteomeHD	Evidence
B9D1	B9D2	1.0		bioplex3_HEK293 bioplex_WMM bioplex3_WMM gupta () boldt bioplex3_HCT116 gupta_WMM boldt_WMM
B9D2	TMEM231	0.999		bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM
B9D1	TMEM231	0.999	0.096	bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM
B9D2	CC2D2A	0.997		bioplex3_HEK293 bioplex_WMM bioplex3_WMM gupta () bioplex3_HCT116
B9D2	MKS1	0.996		bioplex3_HEK293 bioplex_WMM bioplex3_WMM gupta () boldt bioplex3_HCT116 gupta_WMM boldt_WMM
TMEM231	MKS1	0.992		bioplex3_HEK293 bioplex () bioplex_WMM bioplex3_WMM boldt bioplex3_HCT116 boldt_WMM
ASIC2	TMEM231	0.989		bioplex3_WMM bioplex3_HCT116 WMM_only
TMEM231	TMEM17	0.988		bioplex3_WMM bioplex3_HCT116 WMM_only
TMEM231	CC2D2A	0.984	0.074	bioplex_WMM bioplex3_WMM bioplex3_HCT116 WMM_only
B9D1	CRYGN	0.982		bioplex3_HEK293 bioplex3_WMM WMM_only
B9D1	MKS1	0.977		bioplex_WMM bioplex3_WMM gupta () boldt gupta_WMM boldt_WMM
B9D2	TMEM17	0.902		bioplex3_WMM gupta ()
CC2D2A	TMEM17	0.902		bioplex3_WMM WMM_only
B9D1	TMEM17	0.902		bioplex3_WMM gupta ()
B9D1	CC2D2A	0.86	0.126	bioplex_WMM bioplex3_WMM gupta ()
CC2D2A	MKS1	0.779		bioplex_WMM bioplex3_WMM gupta ()
MKS1	TMEM17	0.343		bioplex3_WMM gupta ()

Related Complexes

Genename	Complexes
B9D2	huMAP3_03061.1 huMAP3_08282.1 huMAP3_09116.1 huMAP3_11588.1 huMAP3_14119.1 huMAP3_15177.1
TMEM231	huMAP3_03061.1 huMAP3_07211.1 huMAP3_08282.1 huMAP3_09416.1 huMAP3_11588.1 huMAP3_14119.1 huMAP3_14700.1
CC2D2A	huMAP3_03061.1 huMAP3_08282.1 huMAP3_09116.1 huMAP3_11588.1 huMAP3_14119.1 huMAP3_15177.1
B9D1	huMAP3_02483.1 huMAP3_03061.1 huMAP3_08898.1 huMAP3_09116.1 huMAP3_09360.1 huMAP3_11588.1 huMAP3_14119.1 huMAP3_15177.1
ASIC2	huMAP3_00129.1 huMAP3_02656.1 huMAP3_02911.1 huMAP3_03061.1 huMAP3_08031.1 huMAP3_08282.1 huMAP3_09416.1 huMAP3_10530.1 huMAP3_11089.1 huMAP3_11588.1 huMAP3_11974.1 huMAP3_12482.1 huMAP3_14990.1
MKS1	huMAP3_03061.1 huMAP3_08898.1 huMAP3_09116.1 huMAP3_11588.1 huMAP3_14119.1
TMEM17	huMAP3_03061.1 huMAP3_08282.1 huMAP3_09416.1 huMAP3_11588.1 huMAP3_14119.1 huMAP3_15177.1
CRYGN	huMAP3_02483.1 huMAP3_07231.1 huMAP3_09066.1 huMAP3_09360.1 huMAP3_10956.1 huMAP3_10971.1 huMAP3_11588.1 huMAP3_12116.1 huMAP3_13577.1

hu.MAP 3.0: Complex View

Search for a protein

Complex: huMAP3_11588.1