Entry Search - 604168 604927 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '604168 604927 (Search in: MIM number)'
Results: 2 entries.

1:
* 604927. C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1
TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED
Cytogenetic location: 18q23, Genomic coordinates (GRCh38): 18:79,676,768-79,756,625
Matching terms: 604927
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
18q23 Congenital cataracts, facial dysmorphism, and neuropathy 604168 AR 3
ICD+
SNOMEDCT: 702433001

2:
# 604168. CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN
Cytogenetic location: 18q23
Matching terms: 604168
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
18q23 Congenital cataracts, facial dysmorphism, and neuropathy 604168 AR 3 CTDP1 604927
ICD+
SNOMEDCT: 702433001
ORPHA: 48431
Search: 604168 604927 (Search in: MIM number)
Results: 2 entries.

1:
* 604927. C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1
TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED
Cytogenetic location: 18q23, Genomic coordinates (GRCh38): 18:79,676,768-79,756,625
Matching terms: 604927

2:
# 604168. CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN
Cytogenetic location: 18q23
Matching terms: 604168